Canonical Allele Identifier: PA1139764243
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179132
ClinVar RCV Id: RCV000155917 RCV000666703 RCV001074861 RCV001227049 RCV001376534 RCV001273698
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3281Phe
CA183787
NM_206933.4:c.9842G>T